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SYNGAP1 Resources for Newly Diagnosed Families

Most likely, the first time you heard the term SYNGAP1 was the day someone you love received the diagnosis. At CURE SYNGAP1, we try to take some of the fear out of the diagnosis by providing information not only for new families but also for all families as their children continue to grow older. If you don’t find answers to your questions, please email info@cureSYNGAP1.org anytime. You are not alone – CURE SYNGAP1 is a community of families just like you, devoted to helping.

Individual documents may be printed through links within this document. Here is a link to all printable materials listed below.

Aquí está nuestra colección de recursos en español.

First Steps…

When you’re ready for more information…

(Scroll down or to move quickly to a specific section, click on links from this list)

The Basics

Learn about SYNGAP1

  • SYNGAP1-Related Disorders was discovered in 2009
  • What is SYNGAP1?
    • “2026 | SYNGAP1: Burden, Hope, and Progress” video from CURE SYNGAP1 2025 Conference (video)
    • Interpretation of SYNGAP1 Variants (webinar)
    • Discussing SYNGAP1-Related Disorders (webinar)
  • Five things every parent needs to know (blog post)
  • SYNGAP1 vs. SynGAP: What’s the difference? (blog post)
  • Dr. Ana Mingorance’s message for the 2023 Cannonball supporting SYNGAP1 research (video)
  • Epilepsy
    • Types of seizures and EEG patterns in SYNGAP1 (webinar)
    • Video of what to look for to identify seizures
  • Life Expectancy
  • Autism
  • Treatments
  • Therapeutic Pipeline
  • Behaviors
    • Severe Behaviors and Advocacy (webinar)
    • Cultivating hope with ABA: Behavior managment strategies for SYNGAP1 patients (webinar)
    • SSB30 Study: Seizures, Sleep & Behavior Study – 30 consecutive days of data – Ciitizen / SYNGAP1 (Webinar)
    • Cognition, behavior & clinical trials in SYNGAP1 (Webinar)
    • BioPsychoSocial Approach to SYNGAP1 Severe Behaviors (Chart)
    • Severe behavior problems in SYNGAP1-Related Disorders: A summary of 11 consecutive patients in a tertiary care specialty clinic (Paper published in Science Direct)
  • SYNGAP1: Background, Development, and the Impact on Children (document)
  • How Many SYNGAP1 Patients are in the World?

Advice to those with a recent diagnosis

An Emotional Journey Begins – After a SYNGAP1 Diagnosis (blog post)
A message to the newly diagnosed SYNGAP1 parent (blog post)
Melissa’s Story (blog post)
We Were Searching for Syngap; We Just Didn’t Know It (blog post)
Why Getting a Genetic Diagnosis Matters, Especially for SYNGAP1 (blog post)
Life After Diagnosis Day (film by Disorder Rare Disease Films)
From Simons Searchlight, a CURE SYNGAP1 Partner – A Family Guide: Navigating Life After a Rare Genetic Diagnosis

Medical resources

SYNGAP1 ICD-10 code (give this code to all of your doctors)
Medical Consideration Doc to share with all of your doctors (Documento de Consideraciones Médicas en español está aquí)
Achieving Equity For All People With Autism – written by Jackie Kancir, this is an important article about the variability of autism and danger of grouping all those with a diagnosis into one category; share with all your providers
Doctors – our webpage includes the Medical Consideration Document, a form to share with others names and locations of doctors you have seen who have experience with SYNGAP1, and (coming soon) a map of the locations of these doctors
Medications (A search of our website for “Medications” will provide numerous resources; however, these are simply experiences related by other SYNGAP1 families and do not in any way constitute medical advice for you or anyone else. Please consult your doctor for any and all specific recommendations.)
DNA Decoder – a tool used to identify the specific mutation of SYNGAP1; definitions of the various mutations is also included

Prepare for a future cure

Why are Natural History Studies Important? Watch here.
YouTube Snippet – Natural history Studies

Citizen Health (formerly Ciitizen)

Simons Searchlight (Updated information & graphs August 2023 – link)
Rare-X
Studies
Clinical Trials
YouTube Snippet – Competition is Good For the Patient – Importance of Participating in Trials
Therapeutic Pipeline
In Search of a SYNGAP1 Biomarker (blog post)
Cognition, behavior & clinical trials in SYNGAP1 (webinar)

Planning for your financial future

Take care of yourself

Why Everyone Supports SRF: Meet 50 Families Behind SYNGAP1 Research – (blog post)
Bi-Weekly Family Support Zoom Meeting, Meeting ID:  972 0059 2178 & Passcode: 848417
More of Everything – (webinar & book by SYNGAP1 Mom Janie Reade)
Claiming Strength: Creating a Mental Fortress (book by SYNGAP1 Mom Michelle [Elle] Sanderson)
Grief and Resilience with our SRF Patient Advocacy Group (blog post written from Zoom Family Meeting; versión en español aqui)
“Ways to Help” – a few ways you could suggest to family & friends if or when they ask, “How can I help?” (by Effie Parks, from Once Upon a Gene)
“Welcome to Holland“ – poem by Emily Perl Kingsley
Self-Compassion: The Proven Power of Being Kind to Yourself (book by Dr. Kristin Neff)
Rare Caregiver Brochure (document from Amicus Therapeutics)

About CURE SYNGAP1

Mission Statement
Impact Reports
Our Founders – Mike Graglia & Ashley Evans
Our Team
Why Everyone Supports SRF: Meet 50 Families Behind SYNGAP1 Research
CURE SYNGAP1 Board of Trustees
CURE SYNGAP1 Scientific Advisory Board
CURE SYNGAP1 Clinical Advisory Board
Grants
SRF & SYNGAP1 – The Year in Review, 2023
SRF 5-year anniversary newsletter
SRF by the Numbers – 2022

Stay up-to-date

CURE SYNGAP1 Podcast
Newsletter
Webinars
Blog Posts
Read SYNGAP1 & CURE SYNGAP1 press
Subscribe to the CURE SYNGAP1 YouTube channel

Ways to help support CURE SYNGAP1 and spread awareness of SYNGAP1

Get Involved
Volunteer
Share this blog with your family – The SYNGAP1 Village: How Extended Family Can Provide Vital Support
Fundraising – contact giving@cureSYNGAP1.org
Shop CURE SYNGAP1’s Amazon Storefront and use RaiseRight and Give Freely
Social Media – follow, like & share content, repost
Spread the word about CURE SYNGAP1 by handing out (or sending the link to) our CURE SYNGAP1 Brochure!
Share your Warrior’s story; Siblings can share their story too! Contact Allison@cureSYNGAP1.org
Share Your Story – write a blog, be a guest on SYNGAP1 Stories – contact Ed@cureSYNGAP1.org; or on our Spanish podcast Café SYNGAP1 – contact Merlina@cureSYNGAP1.org
Talk with your local Media – CURE SYNGAP1 has guidelines to help you

Community

SYNGAP1 Conferences, hosted by CURE SYNGAP1

YouTube Snippet – You’re In This For Life! CURE SYNGAP1 is Your Organization
YouTube Snippet – When You Support CURE SYNGAP1, You Support Families
SYNGAP1 Warriors
SYNGAP1 Siblings – Stories and Support
Podcasts – news, family stories, en español, and more on the way! Listen to them all.
Volunteers
Why Everyone Supports SRF: Meet 50 Families Behind SYNGAP1 Research
Family Movies
Facebook Groups
SynGAP Global Network – Global collaboration between SYNGAP1 organizations and advocate groups around the world: website & Facebook Group
TikTok
Bi-Weekly Family Support Meeting
Contacts – CURE SYNGAP1 Leaders
Rare Science & SRF Rare Bear Program

Education & Advocacy

CURE SYNGAP1 Legislative Advocacy Efforts On Behalf Of Those Living With SYNGAP1 (webpage)
Join our Advocacy Team on Zoom each Month to Discuss Current Priorities (Zoom Meetings)
Supporting Students with SYNGAP1-Related Disorders (blog post, handout, video slideshow)
SYNGAP1: Background, Development, and the Impact on Children (document)
Stella Stays In School: Getting Educational Needs Met (blog post)
A Message To The Newly Diagnosed SYNGAP1 Parent (blog post)
Severe Behaviors and Advocacy (webinar)
Become an Advocate (Family Zoom Meeting recording)
Our Voice is Getting Louder for SYNGAP1! (blog post)
Six Steps to Connecting the Dots (webinar)
Let Me Hear YOUR Voice: Effecting Change through Effective Advocacy (webinar)
Achieving Equity For All People With Autism (article by Jackie Kancir)
Emergency Room IDD Stabilization Protocol (paper)
Augmentative & Alternative Communication Devices (link for ‘lending libraries’ by state that lend AAC devices for you to try out)
Functional Behavior Assessment (descriptive document about a process schools often use to figure out what your child is saying through their behaviors so they can come up with possible solutions)

Older Syngapians

Navigating Adulthood with SYNGAP1: Resources and Support for the Caregiver (CURE SYNGAP1 webpage)
Long Term Planning for SYNGAP1 Patients: It’s never too soon (blog post)
More of Everything: One mom’s journey parenting her son with SYNGAP1-related Intellectual Disability (webinar)
Diapers & Pull Ups for Older Kids: A Mom’s Experience (blog post)
Melissa’s Story (blog post)
Your teenager was just diagnosed with SYNGAP1, processing through a new lens (webinar)
Consider IUDs in Teens with Disabilities for Menstrual Management (blog post)
What’s the Life Expectancy of Someone with SYNGAP1 (blog post)
EnABLEing Financial Security for your Syngapian – Setting up a 529 ABLE Savings Plan! (webinar)
Another Study suggests SYNGAP1 Rescue is possible (blog post)
A SYNGAP1 Diagnosis: Charlie’s Story (blog post)
Severe Behaviors and Advocacy (webinar)

Additional resources

Epilepsy Management

Autism

Sensory Processing Disorder – Star Institute

Apraxia – Apraxia Kids

Rare Diseases

General Support